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Cutis Marmorata Telangiectatica Congenita

Cutis Marmorata Telang Congen


Presentation

  • This article describes the characteristics of the clinical presentations in a series of 7 children with CMTC in HRH Princess Maha Chakri Sirindhorn Medical Center, Srinakharinwirot University, Thailand.[ncbi.nlm.nih.gov]
Tall Stature
  • Abstract We describe a boy presenting with macrosomy, body asymmetry, cutis marmorata and tall stature who developed a retinoblastoma.[ncbi.nlm.nih.gov]
Pleural Effusion
  • Our patient also had unilateral pleural effusion, curved femur and frontal bossing.[ncbi.nlm.nih.gov]
  • Fetal intervention consisted of 2 thoracenteses with analysis of the pleural effusion.[karger.com]
  • On occasions, inammation is the a malformation.102stic lymphatic malformations are generally easyith a simple ultrasound scan, but pleural effusion must always be ruled out.ial treatment of choice is percutaneous scle-and in children excellent results[documents.tips]
Stridor
  • We add some further clinical associations to those previously described, including anomalies of the growth of hair and teeth, neuronal migration defects, dislocated hips and stridor.[ncbi.nlm.nih.gov]
Hepatomegaly
  • After birth, the neonate had generalized cutis marmorata telangiectatica congenita (CMTC), large vascular plaques on the scalp with superficial ulceration and crusts, a small atrial septal defect, a patent ductus arteriosus, hepatomegaly, micrognathia[ncbi.nlm.nih.gov]
Vascular Disease
  • Sturge-Weber syndrome, KTW syndrome and CMTC may be included in a spectrum of vascular diseases that are associated with other developmental defects of the mesoderm during embryonic life.[ijpd.in]
  • Some researchers suggested CMTC belongs to a group of vascular diseases (e.g., Sturge-Weber Syndrome , Klippel-Trénaunay Syndrome ) associated with other mesodermal defects occurring during embryogenesis.[accessanesthesiology.mhmedical.com]
  • Some have suggested that Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and cutis marmorata telangiectatica congenita may be included in a group of vascular diseases that are associated with other developmental defects of the mesodermal system during[dermaamin.com]
  • Livedo reticularis can occur in association with collagen vascular diseases, but usually the onset is later in life.[dermatologyadvisor.com]
Genu Valgum
  • Moreover, a dysmorphic facial appearance, scoliosis, genu valgum, talipes planus and increased laxity of joints were noted.[ncbi.nlm.nih.gov]
High Forehead
  • Both showed macrocephaly with high forehead, overgrowth, capillary hemangiomata involving philtrum, nose, and lips, and redundant skin. In addition, the first had cutis marmorata and joint laxity.[ncbi.nlm.nih.gov]
Withdrawn
  • People with visible marks generally feel fine (physically) and can act normally, but when it is mentioned, they may become withdrawn and self-conscious. Some children may have low self-esteem due to the condition.[en.wikipedia.org]
Focal Seizure
  • Neonatal focal seizure developed and expired on the 34th day of life. The cerebral image studies suggested vascular anomalies with secondary cerebral parenchymal damage.[ncbi.nlm.nih.gov]
Paresthesia
  • If CMTC persists into adulthood, it can result in complaints due to paresthesia, increased sensitivity to cold and pain, and the formation of ulcers.Few reports included long-term follow up of CMTC into adolescence and adulthood.[en.wikipedia.org]

Workup

  • Postnatal workup established the diagnoses of cutis marmorata telangiectatica congenita (CMTC) and pulmonary lymphangiectasia.[karger.com]
Antinuclear Autoantibodies
  • He was found to be positive for antinuclear autoantibodies (ANA; 1:640). Histopathologically, numerous dilated capillary vessels associated with sparse extravasated erythrocytes were observed in the upper dermis.[ncbi.nlm.nih.gov]
Escherichia Coli in Blood Culture
  • In one study, the wound grew Escherichia coli while blood cultures were negative. The prognosis is favorable in most patients with an isolated cutaneous abnormality.[en.wikipedia.org]
Pleural Effusion
  • Our patient also had unilateral pleural effusion, curved femur and frontal bossing.[ncbi.nlm.nih.gov]
  • Fetal intervention consisted of 2 thoracenteses with analysis of the pleural effusion.[karger.com]
  • On occasions, inammation is the a malformation.102stic lymphatic malformations are generally easyith a simple ultrasound scan, but pleural effusion must always be ruled out.ial treatment of choice is percutaneous scle-and in children excellent results[documents.tips]

Treatment

  • Although the pathophysiological characteristics of the hydrocephalus in this syndrome is not fully known, previous reports have described its treatment with ventriculoperitoneal shunt placement.[ncbi.nlm.nih.gov]
  • Management and treatment Treatment is usually not required. Laser therapy has been tried in several patients with persistent CMTC and variable outcomes have been reported.[orpha.net]

Prognosis

  • Prognosis Prognosis is generally good, with a tendency for clinical improvement during infancy or even complete resolution. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis, in uncomplicated cases, is good.[ncbi.nlm.nih.gov]

Etiology

  • Etiology The etiology remains unknown. Diagnostic methods Diagnosis is clinical. If the head is affected, ocular and neurological examination should be performed. Possible associated anomalies should be excluded by a careful clinical examination.[orpha.net]
  • Teratogens and autosomal dominant mode of inheritance with incomplete penetrance have been considered as etiological factors. Prognosis, in uncomplicated cases, is good.[ncbi.nlm.nih.gov]

Epidemiology

  • Summary Epidemiology About 300 cases have been reported so far. Both genders seem equally affected.[orpha.net]
  • Etiology Cutis marmorata telangiectatica congenita is of unknown etiology; however, several studies have attributed the cause of the disease to be multifactorial. [1] Epidemiology CMTC is usually present at birth however some cases of delayed onset have[statpearls.com]
  • Epidemiology Frequency United States The frequency of this disorder is not known. It may be more common than reported, because it is usually a benign disorder, and most cases that are reported have an associated malformation.[emedicine.com]
Sex distribution
Age distribution

Pathophysiology

  • Although the pathophysiological characteristics of the hydrocephalus in this syndrome is not fully known, previous reports have described its treatment with ventriculoperitoneal shunt placement.[ncbi.nlm.nih.gov]
  • Features may overlap. [1] , [2] , [3] Further the variability in presentation with overlap, which is seen with both these disorders may have a common pathophysiology related to the Happle gene hypothesis.[ijpd.in]
  • CMTC is believed to be more common than suspected, as studies have shown that milder forms of the disease are not being recognized as CMTC.The pathophysiology is still unclear, with most cases occurring sporadically, although rare cases were reported[en.wikipedia.org]
  • Pathophysiology The pathogenesis of cutis marmorata telangiectatica congenita (CMTC) remains unclear, and the cause may be multifactorial. Most cases occur sporadically, although rare cases occur in families.[dermaamin.com]
  • […] frequency of CMTC is unknown; presently, about 300 cases have been reported. [3] There has been no gender predilection seen in CMTC. [3] Many studies have suggested a female predominance, however, the difference was not statistically significant. [4] Pathophysiology[statpearls.com]

Prevention

  • Recognizing this clinical subtype of M-CMTC is important to prevent these serious potential complications. Copyright 2001 Wiley-Liss, Inc.[ncbi.nlm.nih.gov]
  • How can Cutis Marmorata Telangiectatica Congenita be Prevented? Currently, there are no known methods to prevent Cutis Marmorata Telangiectatica Congenita occurrence. However, CMTC is a very infrequent, benign skin condition.[dovemed.com]
  • Careful positioning and padding are necessary to prevent damage to the already delicate skin. Avoid neuromuscular blocker until the airway has been secured. Avoid succinylcholine and atropine in the presence of glaucoma.[accessanesthesiology.mhmedical.com]
  • Primary LR can be prevented by: Staying warm in cold temperatures Avoiding tobacco Avoiding emotional stress Cutis marmorata; Livedo reticularis - idiopathic; Sneddon syndrome - idiopathic livedo reticularis; Livedo racemosa Jaff MR, Bartholomew JR.[nlm.nih.gov]

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